Results 31 to 40 of about 15,420 (178)

Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia,
Sadeghimoghadam P, Hoorshad N, Adel MG, Rezaeinejad M, Ghaemi M.   +4 more
europepmc   +2 more sources

Myoclonus-dystonia : distinctive motor and non-motor phenotype from other dystonia syndromes [PDF]

, 2019
Background: myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with MD.
Bartels, Anna L., Bergmans, Bruno, Kuiper, Anouk, Santens, Patrick, Smit, Marenka, Tijssen, Marina A. J., Timmers, Elze R., van der Stouwe, A. M. Madelein, van der Veen, Sterre   +8 more
core   +2 more sources

Body Concept, Disability, and Depression in Patients with Spasmodic Torticollis

Behavioural Neurology, 1990
Eighty-five patients with idiopathic spasmodic torticollis were compared with an equally chronic group of 49 cervical spondylosis sufferers in terms of body concept, depression, and disability.
M. Jahanshahi, C. D. Marsden
doaj   +1 more source

Horner’s Syndrome-Torticollis Relation; a Case Report [Horner Sendromu Tortikollis Iliskisi; bir Olgu Sunumu]

Medicine Science, 2016
Horner Syndrome is a rare condition characterized with ptosis, miosis, unilateral anhidrosis and rarely enophtalmos resulting from the sympathetic innervation loss by interruption of oculosymathetic pathway.
Ilknur Can, Ayse Banu Sarifakioglu, Cem Paketci, Aliye Yildirim Guzelant   +3 more
doaj   +1 more source

Tremor cefálico em pacientes com distonia cervical: evolução diferente? [PDF]

, 2008
OBJECTIVE: The association of cervical dystonia (CD) with other movement disorders have been already described, but data on clinical outcome regarding these patients are scant.
Aguiar, Patricia C., Borges, Vanderci, Felício, André Carvalho, Ferraz, Henrique B., Godeiro-Junior, Clecio, Silva, Sonia M.a.   +5 more
core   +3 more sources

Migraine and its childhood equivalents

Неврология, нейропсихиатрия, психосоматика, 2023
Migraine is one of the most common causes of primary headache in the pediatric population. In addition to pain manifestations, episodic syndromes are also found in children, which often lack cephalgic manifestations and are difficult to verify in ...
P. V. Zhmyleva, G. R. Tabeeva
doaj   +1 more source

Two Different Life-Threatening Cases: Presenting with Torticollis

Case Reports in Pediatrics, 2016
Acquired torticollis can be the result of several different pathological mechanisms. It is generally related to trauma, tumors, and inflammatory processes of the cervical muscles, nerves, and vertebral synovia.
Gülsüm Alkan, Melike Emiroğlu, Ayşe Kartal   +2 more
doaj   +1 more source

Can eyes cause neck pain? [PDF]

, 2016
This article is a narrative analysis of literature relating to ocular-motor imbalance and the potential postural consequences. It aims to highlight the importance of sensory integration between the visual and vestibular systems and proprioception.
Hood, Martin, Hood, Wendy
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Surgical management of spasmodic torticollis

Alexandria Journal of Medicine, 2011
Introduction: Spasmodic torticollis (ST) is a neuromuscular disorder characterized by uncontrolled clonic and intermittently tonic spasm of the neck muscles.
Wael Fouad
doaj   +1 more source